Primary Identifier | MGI:1915509 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 68259 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including cell surface receptor signaling pathway; intracellular signaling cassette; and skeletal system development. Located in centrosome and ciliary basal body. Part of intraciliary transport particle B. Is active in 9+0 non-motile cilium. Is expressed in brain. Used to study asphyxiating thoracic dystrophy 2 and asphyxiating thoracic dystrophy 3. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 2. Orthologous to human IFT80 (intraflagellar transport 80). PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele exhibit partial perinatal lethality, decreased body size, postnatal growth retardation, shortened long bones, constricted thoracic cage, periaxial polydactyly, and small cranium. [provided by MGI curators] |